Canonical Allele Identifier: CA400191706
Gene: COL1A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185840T>G , CM000679.2:g.50185840T>G GRCh38
NC_000017.10:g.48263201T>G , CM000679.1:g.48263201T>G GRCh37
NC_000017.9:g.45618200T>G NCBI36
NG_007400.1:g.20800A>C , LRG_1:g.20800A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.4186A>C MANE Select ENSP00000225964.6:p.Ile1396Leu
ENST00000225964.9:c.4186A>C ENSP00000225964.5:p.Ile1396Leu
NM_000088.3:c.4186A>C , LRG_1t1:c.4186A>C NP_000079.2:p.Ile1396Leu
XM_005257058.3:c.3916A>C XP_005257115.2:p.Ile1306Leu
XM_005257059.3:c.3268A>C XP_005257116.2:p.Ile1090Leu
XM_011524341.1:c.3988A>C XP_011522643.1:p.Ile1330Leu
XM_005257058.4:c.3916A>C XP_005257115.2:p.Ile1306Leu
XM_005257059.4:c.3268A>C XP_005257116.2:p.Ile1090Leu
NM_000088.4:c.4186A>C MANE Select NP_000079.2:p.Ile1396Leu