Canonical Allele Identifier: CA8644629
Gene: COL1A1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.50189004G>T
GRCh37 chr17:g.48266365G>T
Revel Score:
ENST00000225964 (MANE Select) 0.607
gnomAD v2:
17:48266365 G / T
gnomAD v3:
17:50189004 G / T
gnomAD v4:
chr17-50189004-G-T
Joint Max Group AF 0.00017072 (NFE)
Genomes Max Group AF 0.00014696 (NFE)
Exomes Max Group AF 0.00016765 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50189004G>T , CM000679.2:g.50189004G>T GRCh38
NC_000017.10:g.48266365G>T , CM000679.1:g.48266365G>T GRCh37
NC_000017.9:g.45621364G>T NCBI36
NG_007400.1:g.17636C>A , LRG_1:g.17636C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.2944C>A MANE Select ENSP00000225964.6:p.Pro982Thr
ENST00000225964.9:c.2944C>A ENSP00000225964.5:p.Pro982Thr
NM_000088.3:c.2944C>A , LRG_1t1:c.2944C>A NP_000079.2:p.Pro982Thr
XM_005257058.3:c.2674C>A XP_005257115.2:p.Pro892Thr
XM_005257059.3:c.2026C>A XP_005257116.2:p.Pro676Thr
XM_011524341.1:c.2746C>A XP_011522643.1:p.Pro916Thr
XM_005257058.4:c.2674C>A XP_005257115.2:p.Pro892Thr
XM_005257059.4:c.2026C>A XP_005257116.2:p.Pro676Thr
NM_000088.4:c.2944C>A MANE Select NP_000079.2:p.Pro982Thr
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