Canonical Allele Identifier: CA9448793
Community Standard Title: NM_001042545.2(LTBP4):c.2812+6C>T
Gene: LTBP4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40614452C>T , CM000681.2:g.40614452C>T GRCh38
NC_000019.9:g.41120358C>T , CM000681.1:g.41120358C>T GRCh37
NC_000019.8:g.45812198C>T NCBI36
NG_021201.1:g.26287C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001042545.2:c.2812+6C>T MANE Select NP_001036010.1:n.2812+6C>T
ENST00000396819.8:c.2812+6C>T MANE Select ENSP00000380031.5:n.2812+6C>T
NM_001042544.1:c.3013+6C>T NP_001036009.1:n.3013+6C>T
NM_001042545.1:c.2812+6C>T NP_001036010.1:n.2812+6C>T
NM_003573.2:c.2902+6C>T NP_003564.2:n.2902+6C>T
ENST00000204005.13:c.2902+6C>T ENSP00000204005.10:n.2902+6C>T
ENST00000243562.13:c.1011+6C>T
ENST00000308370.11:c.3013+6C>T ENSP00000311905.8:n.3013+6C>T
ENST00000318809.11:n.336+6C>T
ENST00000396819.7:c.2812+6C>T ENSP00000380031.4:n.2812+6C>T
ENST00000593463.5:c.255+6C>T
ENST00000594448.5:n.267+6C>T
ENST00000595118.5:n.575+6C>T
ENST00000595665.1:n.255+6C>T
ENST00000596351.5:n.303+6C>T
ENST00000597071.5:c.329+6C>T
ENST00000597816.5:n.305+6C>T
ENST00000599724.5:c.337+6C>T ENSP00000469785.1:n.337+6C>T
ENST00000600499.5:n.412+6C>T
ENST00000601032.5:c.707+6C>T
ENST00000601464.5:n.305+6C>T
ENST00000602251.5:n.575+6C>T
ENST00000610893.4:n.410+6C>T
ENST00000612121.4:c.443+6C>T
ENST00000612845.4:n.371+6C>T
ENST00000617753.4:n.271+6C>T
ENST00000618486.4:c.255+6C>T
ENST00000622107.4:n.271+6C>T
ENST00000622565.4:n.453+6C>T
XM_011527376.1:c.3127+6C>T XP_011525678.1:n.3127+6C>T
XM_011527376.2:c.3127+6C>T XP_011525678.1:n.3127+6C>T
XM_011527377.1:c.3046+6C>T XP_011525679.1:n.3046+6C>T
XM_011527377.2:c.3046+6C>T XP_011525679.1:n.3046+6C>T
XM_011527378.1:c.3046+6C>T XP_011525680.1:n.3046+6C>T
XM_011527378.2:c.3046+6C>T XP_011525680.1:n.3046+6C>T
XM_011527379.1:c.2926+6C>T XP_011525681.1:n.2926+6C>T
XM_011527380.1:c.2920+6C>T XP_011525682.1:n.2920+6C>T
XM_011527380.2:c.2920+6C>T XP_011525682.1:n.2920+6C>T
XM_011527381.1:c.3046+6C>T XP_011525683.1:n.3046+6C>T
XM_011527381.2:c.3046+6C>T XP_011525683.1:n.3046+6C>T
XM_011527382.1:c.2803+6C>T XP_011525684.1:n.2803+6C>T
XM_011527382.2:c.2803+6C>T XP_011525684.1:n.2803+6C>T
XM_011527383.1:c.3046+6C>T XP_011525685.1:n.3046+6C>T
XM_011527383.2:c.3046+6C>T XP_011525685.1:n.3046+6C>T
XM_011527384.1:c.3046+6C>T XP_011525686.1:n.3046+6C>T
XM_011527384.2:c.3046+6C>T XP_011525686.1:n.3046+6C>T
XM_011527385.1:c.3046+6C>T XP_011525687.1:n.3046+6C>T
XM_011527385.2:c.3046+6C>T XP_011525687.1:n.3046+6C>T
XM_011527386.1:c.3046+6C>T XP_011525688.1:n.3046+6C>T
XM_011527386.2:c.3046+6C>T XP_011525688.1:n.3046+6C>T
XM_011527387.1:c.2404+6C>T XP_011525689.1:n.2404+6C>T
XM_017027352.1:c.3046+6C>T XP_016882841.1:n.3046+6C>T
XM_017027353.1:c.3046+6C>T XP_016882842.1:n.3046+6C>T
XM_017027354.1:c.2920+6C>T XP_016882843.1:n.2920+6C>T