Canonical Allele Identifier: CA8645171
Gene: COL1A1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.50194177T>C
GRCh37 chr17:g.48271538T>C
Revel Score:
ENST00000225964 (MANE Select) 0.593
gnomAD v2:
17:48271538 T / C
gnomAD v3:
17:50194177 T / C
gnomAD v4:
chr17-50194177-T-C
Joint Max Group AF 0.00000429 (NFE)
Exomes Max Group AF 0.00000381 (NFE)
ClinVar RCV:
RCV000597522
RCV001860172
ClinVar Variation:
498521
dbSNP:
766204229
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50194177T>C , CM000679.2:g.50194177T>C GRCh38
NC_000017.10:g.48271538T>C , CM000679.1:g.48271538T>C GRCh37
NC_000017.9:g.45626537T>C NCBI36
NG_007400.1:g.12463A>G , LRG_1:g.12463A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.1621A>G MANE Select ENSP00000225964.6:p.Thr541Ala
ENST00000225964.9:c.1621A>G ENSP00000225964.5:p.Thr541Ala
ENST00000463440.1:n.11A>G
ENST00000471344.1:n.565A>G
NM_000088.3:c.1621A>G , LRG_1t1:c.1621A>G NP_000079.2:p.Thr541Ala
XM_005257058.3:c.1621A>G XP_005257115.2:p.Thr541Ala
XM_005257059.3:c.958-1484A>G XP_005257116.2:n.958-1484A>G
XM_011524341.1:c.1423A>G XP_011522643.1:p.Thr475Ala
XM_005257058.4:c.1621A>G XP_005257115.2:p.Thr541Ala
XM_005257059.4:c.958-1484A>G XP_005257116.2:n.958-1484A>G
NM_000088.4:c.1621A>G MANE Select NP_000079.2:p.Thr541Ala
Search 100 bp 5'
Search 100 bp 3'